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.M387K

c.1160T>A

Surrounding Variants

1 paper

NM_000535.7

p.K386insFs

c.1157dupA

2 papers

NM_000535.7

p.M387delFs

c.1159delT

1 paper

NM_000535.7

p.N383_M387Fs

c.1147_1160delinsGACFs

2 papers

NM_000535.7

p.M387fs

c.1159_1160fs

2 papers

NM_000535.7

p.M387L

c.1159A>T

2 papers

NM_000535.7

p.M387L

c.1159A>C

6 papers

NM_000535.7

p.H388fs

c.1162_1163fs

1 paper

NM_000535.7

p.H388insFs

c.1163_1164insT

2 papers

NM_000535.7

p.I385del1

c.1153_1155delTAT

1 paper

NM_000535.7

p.H388fs

c.1162_1163fs

2 papers

NM_000535.7

p.H388insFs

c.1163_1164insA

1 paper

NM_000535.7

p.H388Q

c.1164T>G