Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.D186_I188del0

c.557_562del6

Surrounding Variants

1 paper

NM_000179.3

p.D186N

c.556G>A

2 papers

NM_000179.3

p.D186fs

c.556_557fs

3 papers

NM_000179.3

p.D186Y

c.556G>T

2 papers

NM_000179.3

p.D186G

c.557A>G

1 paper

NM_000179.3

p.K185_L191delFs

c.555_573del19

1 paper

NM_000179.3

p.K187insFs

c.560dupA

1 paper

NM_000179.3

p.K187delFs

c.559delA

1 paper

NM_000179.3

p.K187_K189delFs

c.559_565del7

1 paper

NM_000179.3

p.K187_E192del0

c.559_576del18

1 paper

NM_000179.3

p.K185fs

c.553_554fs

1 paper

NM_000179.3

p.K185_D186insA

c.553_557ins3

2 papers

NM_000179.3

p.K185E

c.553A>G