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

7 papers

NM_000051.4

p.R2461P

c.7382G>C

Surrounding Variants

20 papers

NM_000051.4

p.R2461H

c.7382G>A

2 papers

NM_000051.4

p.R2461S

c.7381C>A

12 papers

NM_000051.4

p.R2461C

c.7381C>T

3 papers

NM_000051.4

p.R2461R

c.7383C>T

3 papers

NM_000051.4

p.F2462L

c.7384T>C

1 paper

NM_000051.4

p.F2462_N2472del0

c.7385_7414del30

1 paper

NM_000051.4

p.F2462_L2463delFs

c.7386_7389del4

1 paper

NM_000051.4

p.K2460E

c.7378A>G

3 papers

NM_000051.4

p.F2462L

c.7386C>A

3 papers

NM_000051.4

p.F2462L

c.7386C>G

1 paper

NM_000051.4

p.L2463fs

c.7387_7388fs

1 paper

NM_000051.4

p.K2460delFs

c.7380delA