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.V1130fs

c.3388_3389fs

Surrounding Variants

1 paper

NM_000179.3

p.L1131F

c.3391C>T

1 paper

NM_000179.3

p.C1129R

c.3385T>C

8 papers

NM_000179.3

p.C1129_V1130del1

c.3386_3388delGTG

1 paper

NM_000179.3

p.V1130delFs

c.3389_3390delTG

2 papers

NM_000179.3

p.Y1128C

c.3383A>G

1 paper

NM_000179.3

p.Y1128F

c.3383A>T

3 papers

NM_000179.3

p.V1132I

c.3394G>A

3 papers

NM_000179.3

p.V1132L

c.3394G>C

1 paper

NM_000179.3

p.A1127A

c.3381C>A

1 paper

NM_000179.3

p.T1133_P1135delFs

c.3399_3403del5

1 paper

NM_000179.3

p.T1133A

c.3397A>G

1 paper

NM_000179.3

p.A1127T

c.3379G>A