Varaico: Literature-Extracted Genetic Variants

MSH2

3,750 papers

RefSeq Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the cha...

Pfam Domains

MutS_Iaa 17–132UCSCMutS domain I

MutS_IIaa 145–290UCSCMutS domain II

MutS_IIIaa 305–609UCSCMutS domain III

MutS_IVaa 473–569UCSCMutS family domain IV

MutS_Vaa 665–852UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 2

HGNC Previous Symbol

COCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000251.3

p.E56V

c.167A>T

Surrounding Variants

1 paper

NM_000251.3

p.E56insFs

c.167_168insAT

1 paper

NM_000251.3

p.E56A

c.167A>C

1 paper

NM_000251.3

p.E56G

c.167A>G

7 papers

NM_000251.3

p.E56K

c.166G>A

2 papers

NM_000251.3

p.E56D

c.168G>C

1 paper

NM_000251.3

p.E56Q

c.166G>C

3 papers

NM_000251.3

p.E56fs

c.166_167fs

1 paper

NM_000251.3

p.E56_V57insGCC

c.166_170ins9

10 papers

NM_000251.3

p.E56*

c.166G>T

1 paper

NM_000251.3

p.E56D

c.168G>T

4 papers

NM_000251.3

p.E56fs

c.166_167fs

5 papers

NM_000251.3

p.V57M

c.169G>A