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

2 papers

NM_000251.3

p.Q397insFs

c.1189dupC

Surrounding Variants

1 paper

NM_000251.3

p.Q397_G410del14

c.1189_1229del42

1 paper

NM_000251.3

p.Q397insFs

c.1190_1191dupAA

1 paper

NM_000251.3

p.Q397insFs

c.1189_1190ins4

1 paper

NM_000251.3

p.Q397E

c.1189C>G

20 papers

NM_000251.3

p.Q397*

c.1189C>T

1 paper

NM_000251.3

p.Q397delFs

c.1190delA

1 paper

NM_000251.3

p.Q397delFs

c.1190_1191delAA

1 paper

NM_000251.3

p.Q397fs

c.1189_1190fs

13 papers

NM_000251.3

p.R396K

c.1187G>A

1 paper

NM_000251.3

p.R396insFs

c.1187_1188insGC

3 papers

NM_000251.3

p.R396insFs

c.1186_1187insGG

3 papers

NM_000251.3

p.Q397R

c.1190A>G