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.S603insFs

c.1808dupC

Surrounding Variants

8 papers

NM_000535.7

p.Q604*

c.1810C>T

1 paper

NM_000535.7

p.S603F

c.1808C>T

1 paper

NM_000535.7

p.S603insFs

c.1809dupT

1 paper

NM_000535.7

p.S603delFs

c.1809delA

1 paper

NM_000535.7

p.A602_S603del2

c.1804_1808del6

1 paper

NM_000535.7

p.Q604R

c.1811A>G

1 paper

NM_000535.7

p.A602_S603delFs

c.1806_1809del4

2 papers

NM_000535.7

p.A602delFs

c.1804_1805delGC

1 paper

NM_000535.7

p.S601_A602delFs

c.1801_1805del5

1 paper

NM_000535.7

p.A602_Q604delFs

c.1804_1811del8

1 paper

NM_000535.7

p.A602G

c.1805C>G

1 paper

NM_000535.7

p.A602D

c.1805C>A