Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.C1177delFs

c.3531delT

Surrounding Variants

1 paper

NM_000051.4

p.C1177Y

c.3530G>A

1 paper

NM_000051.4

p.C1177S

c.3530G>C

1 paper

NM_000051.4

p.C1177insFs

c.3531dupT

1 paper

NM_000051.4

p.C1177F

c.3530G>T

1 paper

NM_000051.4

p.C1177S

c.3529T>A

2 papers

NM_000051.4

p.C1177R

c.3529T>C

2 papers

NM_000051.4

p.C1177fs

c.3529_3530fs

1 paper

NM_000051.4

p.K1178E

c.3532A>G

2 papers

NM_000051.4

p.K1178*

c.3532A>T

1 paper

NM_000051.4

p.L1176L

c.3528G>A

1 paper

NM_000051.4

p.K1178T

c.3533A>C

1 paper

NM_000051.4

p.K1178I

c.3533A>T