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.I685fs

c.2053_2054fs

Surrounding Variants

1 paper

NM_000251.3

p.I685fs

c.2053_2054fs

2 papers

NM_000251.3

p.I685M

c.2055A>G

2 papers

NM_000251.3

p.V686_L687del2

c.2056_2060del6

1 paper

NM_000251.3

p.V684G

c.2051T>G

2 papers

NM_000251.3

p.V684insFs

c.2052dupG

2 papers

NM_000251.3

p.V684fs

c.2050_2051fs

1 paper

NM_000251.3

p.V686L

c.2056G>T

1 paper

NM_000251.3

p.V686_L687Fs

c.2056_2060delinsCTTCTACCTCAAAAAFs

4 papers

NM_000251.3

p.V684fs

c.2050_2051fs

1 paper

NM_000251.3

p.G683_V684ins1

c.2049_2050insAGT

1 paper

NM_000251.3

p.V684insFs

c.2050_2051dupGT

1 paper

NM_000251.3

p.V686insFs

c.2058dupA