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.N184D

c.550A>G

Surrounding Variants

2 papers

NM_000179.3

p.N184fs

c.550_551fs

1 paper

NM_000179.3

p.N184_R190del7

c.550_569del21

1 paper

NM_000179.3

p.K185delFs

c.555delA

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

1 paper

NM_000179.3

p.K185*

c.553A>T

3 papers

NM_000179.3

p.N184_K185delFs

c.552_555del4

1 paper

NM_000179.3

p.K185_L191delFs

c.555_573del19

1 paper

NM_000179.3

p.A182A

c.546C>A

3 papers

NM_000179.3

p.A182V

c.545C>T

1 paper

NM_000179.3

p.A182T

c.544G>A