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

2 papers

NM_000051.4

p.E1186D

c.3558A>C

Surrounding Variants

2 papers

NM_000051.4

p.E1186E

c.3558A>G

3 papers

NM_000051.4

p.E1186D

c.3558A>T

1 paper

NM_000051.4

p.P1187T

c.3559C>A

1 paper

NM_000051.4

p.P1187R

c.3560C>G

2 papers

NM_000051.4

p.E1186*

c.3556G>T

1 paper

NM_000051.4

p.L1185S

c.3554T>C

3 papers

NM_000051.4

p.H1188P

c.3563A>C

1 paper

NM_000051.4

p.G1184_L1185insFs

c.3552_3553insC

1 paper

NM_000051.4

p.L1189I

c.3565C>A

1 paper

NM_000051.4

p.L1189insFs

c.3565_3566insCT

2 papers

NM_000051.4

p.L1189_V1190ins4

c.3565_3569ins12

1 paper

NM_000051.4

p.L1189V

c.3565C>G