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.Q805_C812del8

c.2413_2435del24

Surrounding Variants

1 paper

NM_000535.7

p.R813L

c.2438G>T

6 papers

NM_000535.7

p.R813Q

c.2438G>A

11 papers

NM_000535.7

p.R813W

c.2437C>T

1 paper

NM_000535.7

p.C812*

c.2436C>A

2 papers

NM_000535.7

p.C812_R813del2

c.2434_2438del6

1 paper

NM_000535.7

p.C812S

c.2435G>C

1 paper

NM_000535.7

p.K814R

c.2441A>G

1 paper

NM_000535.7

p.C812G

c.2434T>G

1 paper

NM_000535.7

p.C812S

c.2434T>A

1 paper

NM_000535.7

p.A811delFs

c.2433delG

1 paper

NM_000535.7

p.R810_A811del2

c.2428_2432del6

1 paper

NM_000535.7

p.A808_A811del4

c.2422_2432del12