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.I1960N

c.5879T>A

Surrounding Variants

3 papers

NM_000051.4

p.I1960fs

c.5878_5879fs

1 paper

NM_000051.4

p.I1960_Y1961delFs

c.5880_5881delCT

1 paper

NM_000051.4

p.E1959D

c.5877A>C

1 paper

NM_000051.4

p.E1959D

c.5877A>T

1 paper

NM_000051.4

p.Y1961fs

c.5881_5882fs

27 papers

NM_000051.4

p.Y1961C

c.5882A>G

2 papers

NM_000051.4

p.E1959G

c.5876A>G

3 papers

NM_000051.4

p.E1959K

c.5875G>A

1 paper

NM_000051.4

p.E1959*

c.5875G>T

3 papers

NM_000051.4

p.E1959delFs

c.5876delA

1 paper

NM_000051.4

p.Y1961*

c.5883T>A

1 paper

NM_000051.4

p.Y1961*

c.5883T>G