Varaico: Literature-Extracted Genetic Variants

PMS2

2,219 papers

RefSeq Summary

The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and ...

Pfam Domains

HATPase_c_3aa 33–162UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

DNA_mis_repairaa 114–228UCSCDNA mismatch repair protein, C-terminal domain

DNA_mis_repairaa 249–363UCSCDNA mismatch repair protein, C-terminal domain

MutL_Caa 544–687UCSCMutL C terminal dimerisation domain

Gene Aliases

HGNC Name

PMS1 homolog 2, mismatch repair system component

HGNC Previous Symbol

PMSL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000535.7

p.D606H

c.1816G>C

Surrounding Variants

1 paper

NM_000535.7

p.V605_D606delFs

c.1815_1816delCA

1 paper

NM_000535.7

p.D606Fs

c.1818delinsCTTFs

3 papers

NM_000535.7

p.V605insFs

c.1813dupG

1 paper

NM_000535.7

p.V605delFs

c.1813delC

1 paper

NM_000535.7

p.A602_Q604delFs

c.1804_1811del8

1 paper

NM_000535.7

p.V607insFs

c.1819dupG

1 paper

NM_000535.7

p.Q604_V607insFs

c.1812_1819dup8

2 papers

NM_000535.7

p.V607E

c.1820T>A

1 paper

NM_000535.7

p.V607delFs

c.1819delC

1 paper

NM_000535.7

p.Q604R

c.1811A>G

1 paper

NM_000535.7

p.M600_D606delFs

c.1800_1818del19

1 paper

NM_000535.7

p.A602_S603delFs

c.1806_1809del4