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.A608fs

c.1822_1823fs

Surrounding Variants

1 paper

NM_000535.7

p.V607insFs

c.1821dupA

1 paper

NM_000535.7

p.A608G

c.1823C>G

1 paper

NM_000535.7

p.A608D

c.1823C>A

1 paper

NM_000535.7

p.V607_A608delFs

c.1819_1822del4

1 paper

NM_000535.7

p.M600_D606delFs

c.1800_1818del19

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.D606Fs

c.1818delinsCTTFs

1 paper

NM_000535.7

p.V609fs

c.1825_1826fs

1 paper

NM_000535.7

p.V605_D606delFs

c.1815_1816delCA