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.Q1015K

c.3043C>A

Surrounding Variants

1 paper

NM_000051.4

p.Q1015fs

c.3043_3044fs

2 papers

NM_000051.4

p.Q1015R

c.3044A>G

1 paper

NM_000051.4

p.Q1015Fs

c.3044_3045delinsCCTTFs

2 papers

NM_000051.4

p.Q1015H

c.3045A>C

2 papers

NM_000051.4

p.Q1015H

c.3045A>T

1 paper

NM_000051.4

p.G1016delFs

c.3046_3047delGG

1 paper

NM_000051.4

p.A1014D

c.3041C>A

2 papers

NM_000051.4

p.A1014T

c.3040G>A

1 paper

NM_000051.4

p.G1016R

c.3046G>A

1 paper

NM_000051.4

p.A1014P

c.3040G>C

2 papers

NM_000051.4

p.G1016*

c.3046G>T

1 paper

NM_000051.4

p.G1016fs

c.3046_3047fs