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.A189T

c.565G>A

Surrounding Variants

3 papers

NM_000251.3

p.A189S

c.565G>T

1 paper

NM_000251.3

p.A189_L190delFs

c.566_569del4

2 papers

NM_000251.3

p.A189G

c.566C>G

1 paper

NM_000251.3

p.A189V

c.566C>T

1 paper

NM_000251.3

p.A189delFs

c.567delT

1 paper

NM_000251.3

p.E188D

c.564G>C

2 papers

NM_000251.3

p.A189insFs

c.565_566dupGC

1 paper

NM_000251.3

p.E188D

c.564G>T

1 paper

NM_000251.3

p.E188insFs

c.564dupG

1 paper

NM_000251.3

p.E188G

c.563A>G

8 papers

NM_000251.3

p.L191del1

c.571_572delCTC

1 paper

NM_000251.3

p.L190_L191del2

c.568_572del6