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

1 paper

NM_000251.3

p.K347_M351delFs

c.1039_1051del13

Surrounding Variants

1 paper

NM_000251.3

p.I346I

c.1038T>A

3 papers

NM_000251.3

p.K347_L350del4

c.1039_1049del12

1 paper

NM_000251.3

p.K347insFs

c.1039_1040insC

2 papers

NM_000251.3

p.K347fs

c.1039_1040fs

1 paper

NM_000251.3

p.K347E

c.1039A>G

1 paper

NM_000251.3

p.K347fs

c.1039_1040fs

2 papers

NM_000251.3

p.I346N

c.1037T>A

3 papers

NM_000251.3

p.I346insFs

c.1037_1038dupTT

1 paper

NM_000251.3

p.I346V

c.1036A>G

1 paper

NM_000251.3

p.I346F

c.1036A>T

1 paper

NM_000251.3

p.K347delFs

c.1041delG

25 papers

NM_000251.3

p.W345*

c.1035G>A