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.I735M

c.2205A>G

Surrounding Variants

1 paper

NM_000051.4

p.A736T

c.2206G>A

1 paper

NM_000051.4

p.A736P

c.2206G>C

1 paper

NM_000051.4

p.A736S

c.2206G>T

1 paper

NM_000051.4

p.A736fs

c.2206_2207fs

1 paper

NM_000051.4

p.I735fs

c.2203_2204fs

1 paper

NM_000051.4

p.A736D

c.2207C>A

1 paper

NM_000051.4

p.A736V

c.2207C>T

2 papers

NM_000051.4

p.V734A

c.2201T>C

2 papers

NM_000051.4

p.V734insFs

c.2201_2202insC

1 paper

NM_000051.4

p.V734delFs

c.2202delA

1 paper

NM_000051.4

p.E737A

c.2210A>C

1 paper

NM_000051.4

p.E737G

c.2210A>G